Variant report

Variant	rs8003117
Chromosome Location	chr14:39775630-39775631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1040810	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10872920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11157053	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11157054	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11157057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11157058	0.81[ASN][1000 genomes]
rs11157059	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624144	0.81[ASN][1000 genomes]
rs11626679	0.84[ASN][1000 genomes]
rs12432397	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12434140	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12883781	0.83[ASN][1000 genomes]
rs12897272	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1570132	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17109100	0.83[ASN][1000 genomes]
rs1950952	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2082635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28619058	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899227	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902470	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902528	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62000670	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571915	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571919	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7151835	0.81[ASN][1000 genomes]
rs8004716	0.84[ASN][1000 genomes]
rs8009651	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8018717	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9322998	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs956109	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39746200-39776600	Weak transcription	K562	blood
3	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:39755400-39783400	Strong transcription	Liver	Liver
7	chr14:39755600-39780400	Strong transcription	HepG2	liver
8	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
12	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:39759400-39801800	Weak transcription	NHLF	lung
18	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
20	chr14:39763400-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
23	chr14:39764600-39785600	Weak transcription	Gastric	stomach
24	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
25	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
26	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:39764800-39778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:39765000-39785800	Weak transcription	Lung	lung
32	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:39765600-39789400	Weak transcription	HMEC	breast
34	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:39765800-39785400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:39766000-39783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:39766600-39775800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:39767000-39785400	Weak transcription	Aorta	Aorta
42	chr14:39767000-39785400	Weak transcription	Ovary	ovary
43	chr14:39767000-39785400	Weak transcription	Spleen	Spleen
44	chr14:39767000-39785600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
46	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
48	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
49	chr14:39767400-39778000	Weak transcription	GM12878-XiMat	blood
50	chr14:39767400-39785200	Weak transcription	Brain Anterior Caudate	brain

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